Whole Exome Sequencing
Blueprint Genetics offers high-quality Whole Exome Sequencing tests
Average sequencing depth
Deep intronic variants included
(uncovered by standard WES)
Detection of deletions up to
and Insertions up to
Coverage >20x
of bp in coding regions
for SNV detection
for indel detection (1-50bps)
within coding regions of genes and selected intronic variants
Our WES analysis ensure high standards in quality and performance
  • Major clinical utility, maximized diagnostic yield in patients with rare diseases
  • High-quality WES diagnostic tool: mean sequencing coverage on average 174x at guaranteed 100M sequencing reads, and ≥99.4% of base pairs (bp) covered at ≥20x
  • Comprehensive, transparent and traceable analytic validation
  • Improved coverage of challenging genes (eg, PKD1, RPGR [ORF 15], GBA) and identification of 1,501 clinically relevant noncoding variants
  • Comprehensive and high-quality interpretation by rare disease expert team of PhD geneticists, certified geneticists and clinical consultants
  • Comprehensive and customer-friendly reports

If you have any questions or concerns, you can visit our FAQ page, WES patient guide page or contact us.

Who benefits from WES?

WES is most suitable for individuals with:

  • Complex phenotypes with multiple differential diagnoses
  • Genetically heterogeneous disorders
  • Suspected genetic disorders where a specific genetic test is not available
  • Inconclusive previous genetic testing

Read more: WES Family Guide

1. Sample

We accept blood, saliva, and isolated DNA samples. Simplified test requisition through our secure portal, Nucleus, or by paper.

2. Sequencing

Our high-quality exome capture technology and NGS methods obtain deep and uniform clinical-grade WES data.

3. Analysis and interpretation

Our proprietary automated bioinformatics processes rapidly and reliably produce clinically relevant information from the sequencing data.

4. Clinical statement

A team of geneticists and specialized clinicians interprets the results utilizing information from latest publications and databases to produce a comprehensive clinical statement. Through our online portal, clinicians have full transparent access to their individual patients’ performance and quality data. Data return in various formats (BAM and VCF) available for a fee upon request.

Whole Exome

Whole Exome includes high-quality Whole Exome sequence analysis of single patient cases, coupled with Whole Exome Deletion/Duplication analysis. Deletion/Duplication analysis enables detection of copy-number variants.

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Whole Exome Family

Whole Exome Family includes high-quality Whole Exome sequence analysis of an index patient and parents (trio) or other family members, coupled with Whole Exome Deletion/Duplication analysis. Deletion/Duplication analysis enables detection of copy-number variants. Whole Exome Family is an essential tool for detecting de novo mutations and copy number variants, which underlie many of the early-onset diseases.

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Last modified: March 04, 2024